QuyenAnhDE/medical huggingface dataset:
tonsillar fossa cancer
Synonyms: malignant tumor of tonsillar fossa (disorder)
subacute sclerosing panencephalitis
Definition: A viral infectious disease that results_in infection located_in brain, has_material_basis_in Measles virus which is immune resistant (which can be a result of a mutation of the virus itself).
Synonyms: Van Bogaert's sclerosing leukoencephalitis (disorder)
Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of multiple sites
Synonyms: mixed cellularity Hodgkin's disease stage III
Burkitt's tumor or lymphoma involving lymph nodes of axilla and upper limb
Synonyms: Burkitt's lymphoma of lymph nodes of axilla and upper limb (disorder)
peripheral lymph node tuberculosis
Synonyms: Tuberculosis of peripheral lymph nodes, unspecified examination
malignant histiocytosis involving lymph nodes of head, face, and neck
Synonyms: malignant histiocytosis of lymph nodes of head, face and/or neck (disorder)
Hodgkin's lymphoma, nodular sclerosis, involving lymph nodes of inguinal region and lower limb
Synonyms: Hodgkin's disease, nodular sclerosis, involving lymph nodes of inguinal region and lower limb RELATED []
Hodgkin's lymphoma, lymphocytic depletion, involving intrapelvic lymph nodes
Synonyms: Hodgkin's disease, lymphocytic depletion, involving intrapelvic lymph nodes RELATED []
polycystic kidney disease
Definition: An autosomal dominant disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium.
Synonyms: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
Hodgkin's lymphoma, lymphocytic-histiocytic predominance involving spleen
Synonyms: Hodgkin's, lymphocytic-histiocytic predominance of spleen (disorder)
narcolepsy
Definition: A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
Synonyms: paroxysmal sleep
choledochal cyst
Synonyms: Congenital choledochal cyst (disorder)
Hodgkin's granuloma involving lymph nodes of multiple sites
Synonyms: Hodgkin's granuloma of lymph nodes of multiple sites (disorder)
cervix uteri carcinoma in situ
Synonyms: squamous intraepithelial neoplasia, grade III
Hodgkin's granuloma involving lymph nodes of inguinal region and lower limb
Synonyms: Hodgkin's granuloma of lymph nodes of inguinal region and/or lower limb (disorder)
Hodgkin's sarcoma involving lymph nodes of head, face, and neck
Synonyms: Hodgkin's sarcoma of lymph nodes of head, face and/or neck (disorder)
malignant histiocytosis involving intra-abdominal lymph nodes
polycythemia vera
Synonyms: Proliferative polycythaemia
degenerative disc disease
Definition: A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.
Synonyms: vertebral disc disease
hepatopulmonary syndrome
Synonyms: Hepatopulmonary syndrome (disorder)
Hodgkin's lymphoma, nodular sclerosis, involving spleen
Synonyms: Hodgkin's disease, nodular sclerosis, involving spleen RELATED []
sudden infant death syndrome
Definition: A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.
Synonyms: Sudden infant death syndrome NOS (context-dependent category)
psoriatic arthritis
Definition: A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis.
Synonyms: psoriatic arthropathy RELATED []
liver lymphoma
Synonyms: Lymphoma of Liver
Burkitt's tumor or lymphoma involving lymph nodes of multiple sites
Synonyms: Burkitt's lymphoma of lymph nodes of multiple sites (disorder)
larynx carcinoma in situ
Synonyms: stage 0 carcinoma of the Larynx
Sezary's disease involving lymph nodes of axilla and upper limb
Synonyms: Szary's disease of lymph nodes of axilla and/or upper limb (disorder)
Mycosis fungoides involving spleen
Synonyms: Mycosis fungoides of spleen (disorder)
malignant non-epithelial hepatic and intrahepatic bile duct neoplasm
reticulosarcoma involving spleen
Synonyms: Reticulosarcoma of spleen (disorder)
esophageal leukoplakia
Synonyms: Leukoplakia of esophagus (disorder)
intestine carcinoma in situ
Synonyms: carcinoma in situ of other and unspecified parts of intestine (disorder)
Hodgkin's lymphoma, nodular sclerosis, involving intra-abdominal lymph nodes
Synonyms: Hodgkin's disease, nodular sclerosis, involving intra-abdominal lymph nodes RELATED []
gastrointestinal lymphoma
Hodgkin's sarcoma involving lymph nodes of axilla and upper limb
Synonyms: Hodgkin's sarcoma of lymph nodes of axilla and/or upper limb (disorder)
parotid gland cancer
Definition: A salivary gland cancer that is located_in the parotid gland.
Synonyms: malignant tumor of parotid gland (disorder)
Burkitt's tumor or lymphoma involving lymph nodes of inguinal region and lower limb
Synonyms: Burkitt's lymphoma of lymph nodes of inguinal region and lower limb (disorder)
Hodgkin's paragranuloma involving lymph nodes of head, face, and neck
Synonyms: Hodgkin's paragranuloma of lymph nodes of head, face, and neck (disorder)
reticulosarcoma involving lymph nodes of head, face, and neck
Synonyms: Reticulosarcoma of lymph nodes of head, face, and neck (disorder)
Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of axilla and upper limb
Synonyms: Hodgkin's disease, mixed cellularity, involving lymph nodes of axilla and upper limb RELATED []
polyp of corpus uteri
Synonyms: polyp, uterus
uterine cervix leukoplakia
Synonyms: Leukoplakia of the uterine Cervix
nodular lymphoma involving lymph nodes of multiple sites
Synonyms: nodular lymphoma of lymph nodes of multiple sites (disorder)
Zellweger syndrome
Definition: A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
Synonyms: peroxisome biogenesis disorder
Herpes simplex virus meningitis
Definition: A Simplexvirus infectious disease that results_in inflammation located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom fever, and has_symptom meningism.
Synonyms: Mollaret's meningitis
Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of axilla and upper limb
Synonyms: Hodgkin's disease, lymphocytic depletion, involving lymph nodes of axilla and upper limb RELATED []
bladder carcinoma in situ
Synonyms: Flat CIS of the urinary bladder
lymphosarcoma involving intrathoracic lymph nodes
Herpes simplex virus gingivostomatitis
Definition: A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever.
Synonyms: primary herpetic gingivostomatitis
peroxisomal disease
Definition: An inherited metabolic disorder that involves peroxisome malfunction.
Synonyms: peroxisomal disorder
pityriasis versicolor
Definition: A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales.
Synonyms: Pityriasis versicolor (disorder)
alcohol induced sleep disorder
Ritter's disease
Definition: A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptoms redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability.
Synonyms: Toxic epidermal necrolysis, subcorneal type (disorder)
Hodgkin's lymphoma, lymphocytic-histiocytic predominance, extranodal and solid organ sites
Synonyms: Hodgkin's disease, lymphocytic-histiocytic predominance, extranodal and solid organ sites RELATED []
leishmaniasis
Definition: A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).
Synonyms: Post-kala-azar dermal leishmaniasis (disorder) RELATED [SNOMEDCT_2005_07_31:67896006]
Hodgkin's paragranuloma involving intrathoracic lymph nodes
Synonyms: Hodgkin's paragranuloma of intrathoracic lymph nodes (disorder)
liver fibroma
Synonyms: Fibroma of the Liver
pseudopolyposis of colon
Synonyms: Pseudopolyposis of colon (disorder)
malignant histiocytosis involving spleen
Synonyms: malignant histiocytosis of spleen (disorder)
lethal midline granuloma
Synonyms: Midfacial Necrotising Lesion
systemic lupus erythematosus
Definition: A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. [ls:IEDB, url:http://en.wikipedia.org/wiki/Systemic_lupus_erythematosus]
Synonyms: SLE - Lupus Erythematosus, systemic
discoid lupus erythematosus of eyelid
Hodgkin's paragranuloma involving intrapelvic lymph nodes
Synonyms: Hodgkin's paragranuloma of intrapelvic lymph nodes (disorder)
Hodgkin's paragranuloma involving lymph nodes of multiple sites
Synonyms: Hodgkin's paragranuloma of lymph nodes of multiple sites (disorder)
macroglobulinemia
Synonyms: primary macroglobulinemia
mycosis fungoides involving intrathoracic lymph nodes
Synonyms: Mycosis fungoides of intrathoracic lymph nodes (disorder)
Hodgkin's lymphoma, mixed cellularity, involving intra-abdominal lymph nodes
Synonyms: Hodgkin's disease, mixed cellularity, involving intra-abdominal lymph nodes RELATED []
anal carcinoma in situ
Synonyms: carcinoma in situ of anus NOS (disorder)
parapsoriasis
Synonyms: Parapsoriasis unspecified (disorder)
REM sleep behavior disorder
Definition: A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement.
Synonyms: Rapid eye movement sleep behavior disorder
Hodgkin's sarcoma involving intrathoracic lymph nodes
Synonyms: Hodgkin's sarcoma of intrathoracic lymph nodes (disorder)
Hodgkin's paragranuloma involving intra-abdominal lymph nodes
Synonyms: Hodgkin's paragranuloma of intra-abdominal lymph nodes (disorder)
esophagus carcinoma in situ
Synonyms: stage 0 carcinoma of the esophagus
erythematosquamous dermatosis
Synonyms: Other erythematosquamous dermatosis
sebaceous gland disease
Definition: A skin disease that is located_in the sebaceous gland.
occipital lobe neoplasm
Synonyms: tumor of Occipital Lobe
carcinoma in situ of male genital organs
Synonyms: carcinoma in situ of other and unspecified male genital organs (disorder)
mycosis fungoides involving intrapelvic lymph nodes
Synonyms: Mycosis fungoides of intrapelvic lymph nodes (disorder)
uterus carcinoma in situ
Synonyms: carcinoma in situ of other and unspecified parts of uterus (disorder)
mycosis fungoides involving intra-abdominal lymph nodes
Synonyms: Mycosis fungoides of intra-abdominal lymph nodes (disorder)
cutaneous leishmaniasis
Definition: A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
Synonyms: Leproid leishmaniasis
granuloma inguinale
Definition: A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers.
Synonyms: Pudendal ulcer
Varicella-zoster virus pneumonia
Definition: A Varicellovirus infectious disease that results_in inflammation located_in lung, has_material_basis_in Human herpesvirus 3, has_symptom rash, has_symptom tachypnea, has_symptom chest tightness, has_symptom cough, has_symptom dyspnea, has_symptom fever, has_symptom pleuretic chest pain, and has_symptom hemoptysis.
Synonyms: Varicella pneumonitis
Rubella virus arthritis
Definition: A Rubella virus infectious disease that results_in infection located_in joint, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom joint pains.
Synonyms: rubella arthritis
Hodgkin's lymphoma, lymphocytic depletion, involving spleen
Synonyms: Hodgkin's disease, lymphocytic depletion, involving spleen RELATED []
acute myeloid leukemia
Definition: A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.
Synonyms: Leukemia, Myelocytic, acute
amyloidosis
Definition: An acquired metabolic disease that involves abnormal deposited of amyloid proteins in organs and/or tissues.
Synonyms: amyloid disease
Hodgkin's lymphoma, mixed cellularity, extranodal and solid organ sites
Synonyms: Hodgkin's disease, mixed cellularity, extranodal and solid organ sites
eczema herpeticum
Definition: A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes.
Synonyms: herpes simplex virus eyelid dermatitis
Hodgkin's lymphoma, lymphocytic depletion, involving intra-abdominal lymph nodes
Synonyms: Hodgkin's disease, lymphocytic depletion, involving intra-abdominal lymph nodes RELATED []
lower gum cancer
Synonyms: malignant tumour of lower gum
atrophic muscular disease
Hodgkin's lymphoma, nodular sclerosis, involving intrapelvic lymph nodes
Synonyms: Hodgkin's disease, nodular sclerosis, involving intrapelvic lymph nodes RELATED []
liver carcinoma in situ
Synonyms: carcinoma in situ of liver, gallbladder and bile ducts
stomach carcinoma in situ
Synonyms: gastric carcinoma in situ
peliosis hepatis
Synonyms: hepatic peliosis (disorder)
xeroderma of eyelid
Herpes simplex virus meningoencephalitis
Definition: A Simplexvirus infectious disease that results_in inflammation located_in brain and located_in meninges, has_material_basis_in Human herpesvirus 2 and has_symptom headache, has_symptom lesions in the brain, and has_symptom cerebral hemorrhage.
Synonyms: Herpetic meningoencephalitis (disorder)
Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of multiple sites
Synonyms: stage III Hodgkin's Lymphoma Lymphocyte Depletion type
Burkitt's tumor or lymphoma involving spleen
Synonyms: Splenic Burkitt's Lymphoma
visceral leishmaniasis
Definition: A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.
Synonyms: Kala-Azar
hard palate cancer
Synonyms: malignant tumour of hard palate
Hodgkin's lymphoma, mixed cellularity, involving intrapelvic lymph nodes
Synonyms: Hodgkin's disease, mixed cellularity, involving intrapelvic lymph nodes RELATED []
variola minor
Definition: A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions.
Synonyms: whitepox
mucocutaneous leishmaniasis
Definition: A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa.
Synonyms: New World cutaneous leishmaniasis
Hodgkin's lymphoma, nodular sclerosis, involving intrathoracic lymph nodes
Synonyms: Hodgkin's disease, nodular sclerosis, involving intrathoracic lymph nodes RELATED []
Sezary's disease involving intra-abdominal lymph nodes
Synonyms: Szary's disease of intra-abdominal lymph nodes (disorder)
gas gangrene
Definition: A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis.
Synonyms: Myonecrosis
liver neoplasm
Synonyms: epithelial hepatic and intrahepatic bile duct neoplasm
Sezary's disease involving intrapelvic lymph nodes
Synonyms: Szary's disease of intrapelvic lymph nodes (disorder)
achalasia
Definition: An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.
Synonyms: Lack of reflex relaxation of lower oesophageal sphincter
neurotic excoriation
Synonyms: Factitious skin disease (disorder)
Wiskott-Aldrich syndrome
Synonyms: Wiskott syndrome
liver leiomyoma
Synonyms: leiomyoma of the Liver
submandibular gland cancer
Synonyms: malignant tumor of the Submandibular gland
rectum carcinoma in situ
Synonyms: Severe Rectal Dysplasia
liver inflammatory pseudotumor
Synonyms: Inflammatory Pseudotumor of the Liver
amebic colitis
Definition: An amebiasis that involves infection of the intestine with the protozoan parasite Entamoeba histolytica trophozoites resulting in intermittent nondysenteric diarrhea with abdominal pain, mucus, flatulence, and weight loss. Chronic infection manifests as tender, palpable masses or annular lesions (amebomas) in the cecum and ascending colon.
Synonyms: amoebic colitis
amebiasis
Definition: A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.
Synonyms: entamoebiasis
pemphigus
sleep arousal disorder
Hodgkin's paragranuloma involving lymph nodes of inguinal region and lower limb
Synonyms: Hodgkin's paragranuloma of lymph nodes of inguinal region and/or lower limb (disorder)
vestibule of mouth cancer
Synonyms: malignant tumor of vestibule of mouth (disorder)
generalized hyperhidrosis
Synonyms: Generalized hyperhidrosis (disorder)
diabetic macular edema
dyskinesia of esophagus
Synonyms: Oesophageal motor disorder
Herpes simplex virus keratitis
Definition: A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness.
Synonyms: ocular herpes simplex
Sezary's disease involving intrathoracic lymph nodes
Synonyms: Szary's disease of intrathoracic lymph nodes (disorder)
cataplexy and narcolepsy
speech disorder
Definition: A communication disorder that involves difficulty with the act of speech production.
childhood liver neoplasm
lichen planus
Definition: A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes.
Synonyms: Lichen, ruber planus
disorder of optic chiasm associated with pituitary neoplasm and disorder
Burkitt's tumor or lymphoma involving intra-abdominal lymph nodes
Synonyms: Burkitt's lymphoma of intra-abdominal lymph nodes (disorder)
Barrett's esophagus
Synonyms: CLE
periodic limb movement disorder
Definition: A sleep disorder that involves involuntary limb movement during sleep.
Synonyms: nocturnal myoclonus
geniculate herpes zoster
Definition: A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache.
Synonyms: Ramsay Hunt syndrome type II
pityriasis rubra pilaris
Synonyms: Pityriasis rubra pilaris (disorder)
Herpes simplex virus iridocyclitis
Definition: A Simplexvirus infectious disease that results_in inflammation located_in iris and located_in ciliary body of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom redness, has_symptom photophobia, has_symptom lacrimation, and has_symptom blurred vision.
Synonyms: Herpes simplex iridocyclitis (disorder)
Hodgkin's lymphoma, lymphocytic depletion, involving lymph nodes of head, face, and neck
Synonyms: Hodgkin's disease, lymphocytic depletion, involving lymph nodes of head, face, and neck RELATED []
herpes zoster eyelid dermatitis
Definition: A Varicellovirus infectious disease that results_in infection located_in skin of eyelid, has_material_basis_in Human herpesvirus 3 and has_symptom rash after the reactivation of latent virus years after the primary infection.
Synonyms: Herpes zoster with dermatitis of eyelid (disorder)
central sleep apnea
Definition: A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing.
Synonyms: primary central sleep apnea
lymphosarcoma involving lymph nodes of inguinal region and lower limb
vulva herpetic infectious disease
Definition: A genital herpes that results_in infection located_in skin of vulva, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2 and has_symptom lesions.
Synonyms: Herpetic ulceration of vulva (disorder)
Hodgkin's sarcoma involving intrapelvic lymph nodes
Hodgkin's lymphoma, mixed cellularity, involving lymph nodes of head, face, and neck
Synonyms: Hodgkin's disease, mixed cellularity, involving lymph nodes of head, face, and neck RELATED []
congenital rubella
Definition: A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester.
Synonyms: Gestational rubella syndrome (disorder)
dyshidrosis
Synonyms: Vesicular eczema of hands and/or feet (disorder)
kidney carcinoma in situ
Synonyms: carcinoma in situ of other and unspecified urinary organs (disorder)
pyriform sinus cancer
Synonyms: malignant tumor of pyriform fossa (disorder)
erythromelalgia
Synonyms: Erythromelalgia (disorder)
reticulosarcoma involving lymph nodes of axilla and upper limb
Synonyms: Reticulosarcoma of lymph nodes of axilla and upper limb (disorder)
Alagille syndrome
Definition: A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts.
Synonyms: Arteriohepatic dysplasia (disorder)
cerebral amyloid angiopathy
Definition: An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. [OMIM:605714, url:http://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy]
Synonyms: Hereditary cerebral haemorrhage with amyloidosis - Dutch type (disorder)
Pallister-Hall syndrome
Synonyms: Pallister-Hall syndrome (disorder)
Beemer-Langer syndrome
Definition: A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly.
Synonyms: type IV short rib polydactyly syndrome (disorder)
acrocallosal syndrome
Definition: A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.
Synonyms: Schinzel syndrome 1